Variant report

Variant	rs5999869
Chromosome Location	chr22:22221383-22221384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
2	chr22:22038236..22040756-chr22:22220216..22222541,2	K562	blood:
3	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
4	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
5	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
6	chr22:22122532..22127617-chr22:22219162..22223701,7	K562	blood:
7	chr22:22221197..22223179-chr22:22279633..22282369,2	K562	blood:
8	chr22:22219525..22222944-chr22:22304293..22307333,4	K562	blood:
9	chr22:22131580..22133092-chr22:22219677..22221609,2	MCF-7	breast:
10	chr22:22219546..22221587-chr22:22300415..22302914,3	K562	blood:
11	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
12	chr22:22221148..22221961-chr22:22292763..22293453,2	K562	blood:
13	chr22:22195671..22198608-chr22:22219400..22221487,2	MCF-7	breast:
14	chr22:22018793..22021806-chr22:22220364..22223026,4	K562	blood:
15	chr22:22122532..22126168-chr22:22220788..22223701,4	K562	blood:
16	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
17	chr14:103058761..103059479-chr22:22221371..22222345,2	HCT-116	colon:
18	chr22:22220969..22223712-chr22:22898526..22900646,2	K562	blood:
19	chr22:22220823..22223520-chr22:22318773..22322069,3	K562	blood:
20	chr22:22219761..22223642-chr22:22333943..22337946,5	K562	blood:
21	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
22	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
23	chr22:22220380..22222469-chr22:22899146..22901372,2	K562	blood:
24	chr22:22145076..22147580-chr22:22220741..22222619,2	K562	blood:
25	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
26	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100023	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000089902	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000161180	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000200985	Chromatin interaction
ENSG00000185686	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
11	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
20	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
21	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
24	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
25	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
26	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
27	esv2422338	chr22:22210933-22417406	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
28	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
29	esv2422217	chr22:22217341-23120076	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
30	esv2422394	chr22:22220046-22543157	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
31	esv3389906	chr22:22220477-22223325	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
32	esv3361521	chr22:22220802-22222950	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22219200-22221400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:22219200-22222600	Active TSS	Aorta	Aorta
3	chr22:22219400-22223000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr22:22219400-22223000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:22219600-22221400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr22:22219600-22222000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:22219600-22222200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr22:22219600-22222200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:22219600-22222400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:22219600-22222600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:22219600-22222800	Active TSS	HSMM	muscle
12	chr22:22219800-22222200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:22219800-22222400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr22:22219800-22222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:22219800-22222400	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr22:22219800-22222400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:22219800-22222400	Active TSS	Brain Angular Gyrus	brain
18	chr22:22219800-22222400	Active TSS	HSMMtube	muscle
19	chr22:22219800-22222400	Active TSS	NH-A	brain
20	chr22:22219800-22222800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:22219800-22222800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr22:22219800-22223200	Active TSS	Brain Hippocampus Middle	brain
23	chr22:22220000-22221400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr22:22220000-22221400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:22220000-22221400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr22:22220000-22222200	Active TSS	NHLF	lung
27	chr22:22220000-22222400	Active TSS	Colonic Mucosa	Colon
28	chr22:22220000-22222400	Active TSS	Fetal Kidney	kidney
29	chr22:22220000-22222400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr22:22220000-22222600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr22:22220000-22222600	Active TSS	Ovary	ovary
32	chr22:22220200-22221400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr22:22220200-22221600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:22220200-22222200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:22220200-22222200	Active TSS	Placenta	Placenta
36	chr22:22220200-22222200	Active TSS	HMEC	breast
37	chr22:22220200-22222200	Active TSS	HUVEC	blood vessel
38	chr22:22220200-22222400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:22220200-22222400	Active TSS	Brain Substantia Nigra	brain
40	chr22:22220200-22222400	Active TSS	Fetal Brain Female	brain
41	chr22:22220200-22222600	Active TSS	Fetal Intestine Large	intestine
42	chr22:22220200-22222600	Active TSS	Psoas Muscle	Psoas
43	chr22:22220200-22222800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr22:22220200-22222800	Active TSS	Left Ventricle	heart
45	chr22:22220200-22222800	Active TSS	Rectal Smooth Muscle	rectum
46	chr22:22220200-22222800	Active TSS	Right Ventricle	heart
47	chr22:22220200-22222800	Active TSS	NHDF-Ad	bronchial
48	chr22:22220200-22222800	Active TSS	NHEK	skin
49	chr22:22220200-22223000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr22:22220200-22223000	Active TSS	HUES64 Cell Line	embryonic stem cell

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